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A Founder Intronic Variant in P3H1 Likely Results in Aberrant Splicing and Protein Truncation in Patients of Karen Descent with Osteogenesis Imperfecta Type VIII.

Genes - 26 Jan 2023

Kantaputra Piranit Nik, Angkurawaranon Salita, Intachai Worrachet, Ngamphiw Chumpol, Olsen Bjorn, Tongsima Sissades, Cox Timothy C, Ketudat Cairns James R

Abstract excerpt

One of the most important steps in post-translational modifications of collagen type I chains is the hydroxylation of carbon-3 of proline residues by prolyl-3-hydroxylase-1 (P3H1). Genetic variants in P3H1 have been reported to cause autosomal recessive osteogenesis imperfecta (OI) type VIII. Clinical and radiographic examinations, whole-exome sequencing (WES), and bioinformatic analysis were performed in 11 Thai...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36833249
DOI: 10.3390/genes14020322
PMCID: PMC9956579

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